Variant report

Variant	rs60406176
Chromosome Location	chr2:12138394-12138395
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11901995	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16858066	1.00[AMR][1000 genomes]
rs6723216	1.00[AMR][1000 genomes]
rs6732821	1.00[AMR][1000 genomes]
rs6736659	1.00[AMR][1000 genomes]
rs6748351	1.00[AMR][1000 genomes]
rs6748733	1.00[AMR][1000 genomes]
rs73175452	1.00[AMR][1000 genomes]
rs73175470	1.00[AMR][1000 genomes]
rs73177640	1.00[AMR][1000 genomes]
rs73179831	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7568754	1.00[AMR][1000 genomes]
rs7606301	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:12134800-12139800	Enhancers	NHDF-Ad	bronchial
2	chr2:12135200-12139600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:12135200-12139800	Enhancers	HSMM	muscle
4	chr2:12135400-12139400	Enhancers	Osteobl	bone
5	chr2:12135600-12138800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr2:12135800-12138400	Weak transcription	Fetal Muscle Leg	muscle
7	chr2:12136000-12138600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:12136000-12138600	Weak transcription	HMEC	breast
9	chr2:12136400-12139400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:12136800-12138800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:12136800-12139400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:12137200-12138400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:12137200-12138400	Weak transcription	NH-A	brain
14	chr2:12137200-12138600	Weak transcription	NHEK	skin
15	chr2:12137200-12148800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:12137400-12138400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:12137400-12140200	Enhancers	Primary B cells from peripheral blood	blood
18	chr2:12137800-12138600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:12137800-12138800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr2:12137800-12138800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:12137800-12139000	Enhancers	Dnd41	blood
22	chr2:12137800-12139000	Enhancers	HUVEC	blood vessel
23	chr2:12138000-12138600	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr2:12138000-12138800	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr2:12138000-12138800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr2:12138000-12139200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:12138000-12139600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
28	chr2:12138000-12139600	Enhancers	Muscle Satellite Cultured Cells	--
29	chr2:12138000-12139600	Flanking Active TSS	GM12878-XiMat	blood
30	chr2:12138000-12140200	Enhancers	HSMMtube	muscle
31	chr2:12138200-12139000	Enhancers	Primary T cells from cord blood	blood
32	chr2:12138200-12139200	Enhancers	NHLF	lung

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